ANKS4B

ankyrin repeat and sterile alpha motif domain containing 4B, the group of Sterile alpha motif domain containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 16:21233699-21253850

Links

ENSG00000175311 ∙ NCBI:257629 ∙ OMIM:609901 ∙ HGNC:26795 ∙ Uniprot:Q8N8V4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKS4B gene.

• not_specified (38 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKS4B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145865.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			36	3		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKS4B	protein_coding	protein_coding	ENST00000311620	2	18765

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000149	0.661	124764	0	32	124796	0.000128

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.896	185	223	0.831	0.0000111	2766
Missense in Polyphen		68	77.307	0.87961		946
Synonymous	0.599	86	93.4	0.921	0.00000530	808
Loss of Function	0.944	9	12.6	0.713	6.18e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000189	0.000189
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000159
Middle Eastern	0.000223	0.000223
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity). {ECO:0000250|UniProtKB:Q8K3X6, ECO:0000269|PubMed:26812018}.

Recessive Scores

• pRec: 0.0898

Intolerance Scores

• loftool: 0.670
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.283
• hipred: N
• hipred_score: 0.216

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.183

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Anks4b
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: cell differentiation;cellular protein-containing complex assembly;response to endoplasmic reticulum stress;protein localization to microvillus;brush border assembly
• Cellular component: endoplasmic reticulum membrane;plasma membrane;microvillus;brush border
• Molecular function: protein binding